Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.D1076A
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CRB2

NM_173689.7:p.D1076A

Associated Papers

Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports.

Lu J et al.

World Journal of Clinical Cases, 2021

Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.

Udagawa T et al.

Pediatric Nephrology (berlin, Germany), 2017

Expansion of phenotype and genotypic data in CRB2-related syndrome.

Lamont RE et al.

European Journal of Human Genetics : Ejhg, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."